Single gene, two diseases, and multiple clinical presentations: Biotin–thiamine-responsive basal ganglia disease

2020 ◽  
Vol 42 (8) ◽  
pp. 572-580
Author(s):  
Betül Kılıç ◽  
Yasemin Topçu ◽  
Şiar Dursun ◽  
İlknur Erol ◽  
Merve Hilal Dolu ◽  
...  
Keyword(s):  
Basal Ganglia ◽  
Single Gene ◽  
Clinical Presentations ◽  
Basal Ganglia Disease

SLC19A3 Gene Defects Sorting the Phenotype and Acronyms: Review

2017 ◽  
Vol 49 (02) ◽  
pp. 083-092 ◽  
Author(s):  
Brahim Tabarki ◽  
Majid Alfadhel
Keyword(s):  
Basal Ganglia ◽  
Age Of Onset ◽  
Molecular Testing ◽  
Gene Defect ◽  
Clinical Presentations ◽  
Potential Biomarker ◽  
Basal Ganglia Disease ◽  
Gene Defects ◽  
Biochemical Abnormalities

AbstractThiamine metabolism dysfunction syndrome type 2 is also known by other terms including: “SCL19A3 gene defect,” “biotin-responsive basal ganglia disease” (BBGD), and “biotin-thiamine–responsive basal ganglia disease” (BTBGD). The worldwide incidence and prevalence of this disorder are unknown, but the syndrome has primarily been reported in Saudi Arabia (52% of reported cases). It is caused by a defect in thiamine transporter 2 (hTHTR2), which is encoded by the SLC19A3 gene. The clinical presentations of these syndromes are heterogeneous and are likely related to the age of onset. They can be classified into three major categories: classical childhood BBGD; early-infantile Leigh-like syndrome/atypical infantile spasms; and adult Wernicke's-like encephalopathy. These variable phenotypes have common features in that all are triggered by stressors, such as fever, trauma, or vaccinations. Affected brain areas include the basal ganglia, cerebral cortex, thalamus, and periaqueductal regions. Free thiamine is a potential biomarker for diagnosis and monitoring of treatment. Definitive diagnosis is usually made by molecular testing for the SLC19A3 gene defect, and treatment consists of thiamine alone or in combination with biotin for life. In this report, we review all reported cases of the SLC19A3 gene defect, discuss the history, epidemiology, metabolic pathways, clinical phenotypes, biochemical abnormalities, brain pathology, diagnosis, genetic issues, and treatment of this devastating disorder. Finally, we recommend instituting an international registry to further the basic scientific and clinical research to elucidate multiple unanswered questions about SLC19A3 gene syndromes.

Biotin-responsive basal ganglia disease: a treatable differential diagnosis of Leigh syndrome

2013 ◽  
Vol 44 (02) ◽  
Author(s):  
F Distelmaier ◽  
P Huppke ◽  
J Schaper ◽  
E Morava ◽  
E Mayatepek ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Basal Ganglia ◽  
Leigh Syndrome ◽  
Basal Ganglia Disease

Biotin-responsive basal ganglia disease revisited: Clinical, radiologic, and genetic findings

Neurology ◽  
2012 ◽  
Vol 80 (3) ◽  
pp. 261-267 ◽  
Author(s):  
B. Tabarki ◽  
S. Al-Shafi ◽  
S. Al-Shahwan ◽  
Z. Azmat ◽  
A. Al-Hashem ◽  
...  
Keyword(s):  
Basal Ganglia ◽  
Basal Ganglia Disease

scholarly journals Compound heterozygous SLC19A3 mutations further refine the critical promoter region for biotin-thiamine-responsive basal ganglia disease

2017 ◽  
Vol 3 (6) ◽  
pp. a001909 ◽  
Author(s):  
Whitney Whitford ◽  
Isobel Hawkins ◽  
Emma Glamuzina ◽  
Francessa Wilson ◽  
Andrew Marshall ◽  
...  
Keyword(s):  
Basal Ganglia ◽  
Promoter Region ◽  
Compound Heterozygous ◽  
Basal Ganglia Disease

scholarly journals Depression in adult patients with biotin responsive basal ganglia disease

2016 ◽  
Vol 10 (4) ◽  
pp. 223-225 ◽  
Author(s):  
Dalal K. Bubshait ◽  
Asif Rashid ◽  
Mohammed A. Al-Owain ◽  
Raashda A. Sulaiman
Keyword(s):  
Basal Ganglia ◽  
Adult Patients ◽  
Basal Ganglia Disease

Disorders of movement

2018 ◽  
Author(s):  
Cris S. Constantinescu ◽  
Fahd Baig
Keyword(s):  
Cerebral Cortex ◽  
Basal Ganglia ◽  
Movement Disorders ◽  
Neural Pathways ◽  
Subcortical Structures ◽  
Clinical Presentations

The neural pathways that control movement involve several structures, from the cerebral cortex through to the muscle. This allows for the maintenance of tone, posture, and volitional movement. Disruption of subcortical structures which modulate these pathways (such as the basal ganglia) can cause a variety of clinical presentations collectively termed movement disorders. They can be simply divided into hypokinetic disorders (e.g. parkinsonism) and hyperkinetic disorders.

Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease

10.1038/ng571 ◽  
2001 ◽  
Vol 28 (4) ◽  
pp. 350-354 ◽  
Author(s):  
Andrew R.J. Curtis ◽  
Constanze Fey ◽  
Christopher M Morris ◽  
Laurence A. Bindoff ◽  
Paul G. Ince ◽  
...  
Keyword(s):  
Basal Ganglia ◽  
Adult Onset ◽  
Gene Encoding ◽  
Basal Ganglia Disease

Biotin–thiamine–responsive basal ganglia disease: catastrophic consequences of delay in diagnosis and treatment

2016 ◽  
Vol 39 (2) ◽  
pp. 117-125 ◽  
Author(s):  
Hussein Algahtani ◽  
Saeed Ghamdi ◽  
Bader Shirah ◽  
Bader Alharbi ◽  
Raghad Algahtani ◽  
...  
Keyword(s):  
Basal Ganglia ◽  
Diagnosis And Treatment ◽  
Delay In Diagnosis ◽  
Basal Ganglia Disease

scholarly journals Alternating paroxysmal dystonia and hemiplegia in childhood as a symptom of basal ganglia disease.

1995 ◽  
Vol 59 (4) ◽  
pp. 453-454 ◽  
Author(s):  
Y M Hart ◽  
D Tampieri ◽  
E Andermann ◽  
F Andermann ◽  
M Connolly ◽  
...  
Keyword(s):  
Basal Ganglia ◽  
Basal Ganglia Disease ◽  
Paroxysmal Dystonia
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